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Gene

MEFV

MEFV innate immunity regulator, pyrin

Summary

Cytogenetic location
16p13.3
Coordinates
Chromosome 16: 3,242,027–3,256,633 (GRCh38)
Exons
10 exons across 14.6 kb
Protein
781 amino acids
Also known as
FMF, TRIM20
Previous symbols
MEF
MANE Select transcript
ENST00000219596.6NM_000243.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Familial Mediterranean Fever

    • An autoinflammatory disorder caused by MEFV variants, with recurrent fever and serositis and a risk of AA amyloidosis.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Colchicine prophylaxis, IL-1 inhibitors (anakinra, canakinumab), dietary management

How MEFV is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where MEFV sits. MEFV and 43 genes near it on chromosome 16, from 2,749,330 to 3,749,329.Chromosome 1616p13.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.32.8 Mb3 Mb3.2 Mb3.4 Mb3.6 MbSRRM2: 2,752,008–2,772,538, forward strandSRRM2ELOB: 2,771,413–2,777,320, reverse strandELOBPRSS33: 2,783,926–2,787,948, reverse strandPRSS33PRSS41: 2,798,470–2,805,304, forward strandPRSS41PRSS21: 2,817,130–2,826,304, forward strandPRSS21ZG16B: 2,830,162–2,839,585, forward strandZG16BPRSS22: 2,852,728–2,858,677, reverse strandPRSS22FLYWCH2: 2,882,868–2,903,099, forward strandFLYWCH2FLYWCH1: 2,911,599–2,951,208, forward strandFLYWCH1KREMEN2: 2,963,625–2,968,380, forward strandKREMEN2PKMYT1: 2,968,024–2,980,813, reverse strandPAQR4: 2,969,242–2,973,484, forward strandPAQR4GREP1: 2,988,256–3,002,295, forward strand: 3,004,132–3,004,859, forward strandCLDN9: 3,012,923–3,014,505, forward strandCLDN6: 3,014,705–3,020,071, reverse strandTNFRSF12A: 3,018,445–3,022,385, forward strandTHOC6: 3,022,541–3,027,755, forward strandTHOC6HCFC1R1: 3,022,625–3,024,312, reverse strandHCFC1R1BICDL2: 3,027,682–3,036,993, reverse strandBICDL2MMP25: 3,046,062–3,060,729, forward strandMMP25IL32: 3,064,301–3,082,192, forward strandIL32ZSCAN10: 3,088,888–3,099,370, reverse strandZSCAN10ZNF205: 3,112,550–3,120,527, forward strandZNF205ZNF213: 3,129,777–3,142,804, forward strandZNF213OR1F1: 3,188,204–3,224,779, forward strandOR1F1ZNF200: 3,222,324–3,236,221, reverse strandZNF200MEFV: 3,242,027–3,256,633, reverse strandMEFVZNF263: 3,263,800–3,301,705, forward strandZNF263TIGD7: 3,298,390–3,305,729, reverse strandTIGD7ZNF75A: 3,305,385–3,320,003, forward strandZNF75AOR2C1: 3,355,889–3,357,306, forward strandOR2C1: 3,365,099–3,479,550, forward strandZSCAN32: 3,382,081–3,401,483, reverse strandZSCAN32ZNF174: 3,401,194–3,409,478, forward strandZNF174ZNF597: 3,432,414–3,443,539, reverse strandZNF597NAA60: 3,443,623–3,486,961, forward strandNAA60C16orf90: 3,493,484–3,495,489, reverse strandC16orf90IFT38: 3,500,976–3,540,653, forward strandIFT38NLRC3: 3,538,090–3,577,403, reverse strandNLRC3SLX4: 3,579,654–3,611,617, reverse strandSLX4DNASE1: 3,611,678–3,680,143, forward strandDNASE1TRAP1: 3,651,639–3,717,595, reverse strandTRAP1CREBBP: 3,725,054–3,880,734, reverse strandCREBBPDiagram of MEFV: 10 exons on the reverse strand of chromosome 16Exon 10: 10 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 2: 8 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 10: 3,242,027–3,243,694, 1,668 basesExon 9: 3,243,860–3,243,892, 33 basesExon 8: 3,244,254–3,244,286, 33 basesExon 7: 3,244,473–3,244,588, 116 basesExon 6: 3,246,525–3,246,547, 23 basesExon 5: 3,247,016–3,247,246, 231 basesExon 4: 3,248,909–3,249,004, 96 basesExon 3: 3,249,431–3,249,780, 350 basesExon 2: 3,254,158–3,254,790, 633 basesExon 1: 3,256,311–3,256,633, 323 bases109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.5 kb of the gene's 14.6 kb; 2,346 of those bases code for the protein.

How a genome test reads MEFV

25

positions in MEFV where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 14.6 kb of MEFV, introns included, not only the 3.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MEFV gene: MEFV innate immunity regulator, pyrin. Retrieved 17 October 2026, from https://dantelabs.com/genes/mefv

Vancouver

Dante Labs. MEFV gene: MEFV innate immunity regulator, pyrin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mefv

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